Marfan's Syndrome with Acute Inferior Wall ST-segment Elevation Myocardial Infarction in A Combined Family of 13 Cases

Abstract

Marfan's syndrome (MFS) is a rare autosomal dominant connective tissue disorder, often associated with genetic mutations and most patients have a family history of the disease. Its clinical manifestations are mainly skeletal, ocular and cardiovascular pathologies. We report a case of a 34-year-old male diagnosed with Marfan's syndrome at the age of 22 and presenting with ocular symptoms. Following an episode of sudden chest pain, he was admitted to the hospital with an acute inferior wall ST-segment elevation myocardial infarction, and was diagnosed with a mid-right coronary artery occlusion by coronary angiography. He underwent coronary artery balloon dilatation to restore grade 3 flow, and a stent was implantated 4 months later. In a subsequent epidemiologic survey of 26 family members from 4 generations, 13 members were diagnosed with Marfan's syndrome, all of them presented with ocular signs. After more than 3 years of follow-up of the entire family, there is currently no one with coarctation of the aorta and no sudden death. Since some patients with Marfan's syndrome can present with acute chest pain complicated by aortic coarctation, if the coarctation involves the aortic root it can lead to severe stenosis or occlusion of the coronary arteries, resulting in electrocardiograms showing typical changes for a ST-segment elevation myocardial infarction. Considering the complexity and life-threatening nature of Marfan's syndrome, it is important consider the various etiologies of chest pain in patients with Marfan's syndrome.